Confirmation of Kapur-Toriello syndrome in an Italian patient

L. Zelante; M. A. Candela; A. Savoia; P. Gasparini

Confirmation of Kapur-Toriello syndrome in an Italian patient

L. Zelante, M. A. Candela, A. Savoia, P. Gasparini

Research output: Contribution to journal › Article › peer-review

Abstract

We report a patient showing the phenotype described by Kapur and Toriello (Am J Med Genet 41:423-425, 1991) in two sibs. Clinical manifestations include severe mental retardation, cleft lip/palate, and distinctive nose, eye, and intestinal defects. This additional case contributes to a better definition of the apparently new MCA/MR syndrome proposed by Kapur and Toriello.

Original language	English
Pages (from-to)	151-153
Number of pages	3
Journal	Clinical Dysmorphology
Volume	8
Issue number	2
Publication status	Published - 1999

Keywords

Cleft lip/palate
Kapur-Toriello syndrome
Retinal coloboma

ASJC Scopus subject areas

Genetics(clinical)
Pediatrics, Perinatology, and Child Health
Anatomy

Cite this

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title = "Confirmation of Kapur-Toriello syndrome in an Italian patient",

abstract = "We report a patient showing the phenotype described by Kapur and Toriello (Am J Med Genet 41:423-425, 1991) in two sibs. Clinical manifestations include severe mental retardation, cleft lip/palate, and distinctive nose, eye, and intestinal defects. This additional case contributes to a better definition of the apparently new MCA/MR syndrome proposed by Kapur and Toriello.",

keywords = "Cleft lip/palate, Kapur-Toriello syndrome, Retinal coloboma",

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AU - Savoia, A.

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N2 - We report a patient showing the phenotype described by Kapur and Toriello (Am J Med Genet 41:423-425, 1991) in two sibs. Clinical manifestations include severe mental retardation, cleft lip/palate, and distinctive nose, eye, and intestinal defects. This additional case contributes to a better definition of the apparently new MCA/MR syndrome proposed by Kapur and Toriello.

AB - We report a patient showing the phenotype described by Kapur and Toriello (Am J Med Genet 41:423-425, 1991) in two sibs. Clinical manifestations include severe mental retardation, cleft lip/palate, and distinctive nose, eye, and intestinal defects. This additional case contributes to a better definition of the apparently new MCA/MR syndrome proposed by Kapur and Toriello.

KW - Cleft lip/palate

KW - Kapur-Toriello syndrome

KW - Retinal coloboma

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Confirmation of Kapur-Toriello syndrome in an Italian patient

Abstract

Keywords

ASJC Scopus subject areas

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